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rs28936401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs28936401(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916107
GeneACVRL1
is asnp
is mentioned by
dbSNPrs28936401
ebirs28936401
HLIrs28936401
Exacrs28936401
Varsomers28936401
Maprs28936401
PheGenIrs28936401
hapmaprs28936401
1000 genomesrs28936401
hgdprs28936401
ensemblrs28936401
gopubmedrs28936401
geneviewrs28936401
scholarrs28936401
googlers28936401
pharmgkbrs28936401
gwascentralrs28936401
openSNPrs28936401
23andMers28936401
23andMe allrs28936401
SNP Nexus

SNPshotrs28936401
SNPdbers28936401
MSV3drs28936401
GWAS Ctlgrs28936401
Max Magnitude4
OMIM601284
DescTELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Variant0007
Relatedalso
Neighborrs28936688
Distance624
Neighborrs28936399
Distance7


ClinVar
Risk rs28936401(T;T)
Alt rs28936401(T;T)
Reference rs28936401(C;C)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 0
HGVS NC_000012.11:g.52309891C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008733.2, RCV000008734.3,